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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term CNTN1:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000018236	CNTN1	0	0	12	ENSG00000018236	ENST00000547702	ENSP00000448004	contactin 1 [Source:HGNC Symbol;Acc:2171]	12	41086244	41466220	1	q12	41086244	41366237	CNTN1	CNTN1-003	HGNC Symbol	HGNC transcript name	12	35.21	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	1272	2171	CNTN1	NM_001256063	27519

MSeqDR Master Exome Data Set M1: 245 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	12	41302223	A	G	ENST00000347616	ENSG00000018236	41086244	41466220	ENSP00000325660	CNTN1	1	CNTN1_HUMAN	-	-	5'_UTR	rs115378305	0.0131	G=1/A=8599;G=117/A=4289;G=118/A=12888	-	-	-	-	het	1
2	12	41302223	A	G	ENST00000348761	ENSG00000018236	41086244	41466220	ENSP00000261160	CNTN1	1	CNTN1_HUMAN	-	-	5'_UTR	rs115378305	0.0131	G=1/A=8599;G=117/A=4289;G=118/A=12888	-	-	-	-	het	1
3	12	41302223	A	G	ENST00000360099	ENSG00000018236	41086244	41466220	ENSP00000353213	CNTN1	1	CNTN1_HUMAN	-	-	5'_UTR	rs115378305	0.0131	G=1/A=8599;G=117/A=4289;G=118/A=12888	-	-	-	-	het	1
4	12	41302223	A	G	ENST00000547702	ENSG00000018236	41086244	41466220	ENSP00000448004	CNTN1	1	CNTN1_HUMAN	-	-	5'_UTR	rs115378305	0.0131	G=1/A=8599;G=117/A=4289;G=118/A=12888	-	-	-	-	het	1
5	12	41302223	A	G	ENST00000547849	ENSG00000018236	41086244	41466220	ENSP00000448653	CNTN1	1	CNTN1_HUMAN	-	-	5'_UTR	rs115378305	0.0131	G=1/A=8599;G=117/A=4289;G=118/A=12888	-	-	-	-	het	1
6	12	41302223	A	G	ENST00000548005	ENSG00000018236	41086244	41466220	ENSP00000447862	CNTN1	1	-	-	-	5'_UTR	rs115378305	0.0131	G=1/A=8599;G=117/A=4289;G=118/A=12888	-	-	-	-	het	1
7	12	41302223	A	G	ENST00000551295	ENSG00000018236	41086244	41466220	ENSP00000447006	CNTN1	1	CNTN1_HUMAN	-	-	5'_UTR	rs115378305	0.0131	G=1/A=8599;G=117/A=4289;G=118/A=12888	-	-	-	-	het	1
8	12	41302223	A	G	ENST00000551424	ENSG00000018236	41086244	41466220	ENSP00000450412	CNTN1	1	-	-	-	5'_UTR	rs115378305	0.0131	G=1/A=8599;G=117/A=4289;G=118/A=12888	-	-	-	-	het	1
9	12	41302223	A	G	ENST00000552248	ENSG00000018236	41086244	41466220	ENSP00000447860	CNTN1	1	-	-	-	5'_UTR	rs115378305	0.0131	G=1/A=8599;G=117/A=4289;G=118/A=12888	-	-	-	-	het	1
10	12	41302223	A	G	ENST00000552913	ENSG00000018236	41086244	41466220	ENSP00000449706	CNTN1	1	-	-	-	5'_UTR	rs115378305	0.0131	G=1/A=8599;G=117/A=4289;G=118/A=12888	-	-	-	-	het	1
11	12	41302288	T	C	ENST00000347616	ENSG00000018236	41086244	41466220	ENSP00000325660	CNTN1	1	CNTN1_HUMAN	c.54T>C	p.C18C	syn	rs149203149	-	C=3/T=8597;C=0/T=4404;C=3/T=13001	lod=44:374	-	-	-	het	4
12	12	41302288	T	C	ENST00000348761	ENSG00000018236	41086244	41466220	ENSP00000261160	CNTN1	1	CNTN1_HUMAN	c.54T>C	p.C18C	syn	rs149203149	-	C=3/T=8597;C=0/T=4404;C=3/T=13001	lod=44:374	-	-	-	het	4
13	12	41302288	T	C	ENST00000360099	ENSG00000018236	41086244	41466220	ENSP00000353213	CNTN1	1	CNTN1_HUMAN	c.54T>C	p.C18C	syn	rs149203149	-	C=3/T=8597;C=0/T=4404;C=3/T=13001	lod=44:374	-	-	-	het	4
14	12	41302288	T	C	ENST00000547702	ENSG00000018236	41086244	41466220	ENSP00000448004	CNTN1	1	CNTN1_HUMAN	c.54T>C	p.C18C	syn	rs149203149	-	C=3/T=8597;C=0/T=4404;C=3/T=13001	lod=44:374	-	-	-	het	4
15	12	41302288	T	C	ENST00000547849	ENSG00000018236	41086244	41466220	ENSP00000448653	CNTN1	1	CNTN1_HUMAN	c.54T>C	p.C18C	syn	rs149203149	-	C=3/T=8597;C=0/T=4404;C=3/T=13001	lod=44:374	-	-	-	het	4
16	12	41302288	T	C	ENST00000548005	ENSG00000018236	41086244	41466220	ENSP00000447862	CNTN1	1	-	c.54T>C	p.C18C	syn	rs149203149	-	C=3/T=8597;C=0/T=4404;C=3/T=13001	lod=44:374	-	-	-	het	4
17	12	41302288	T	C	ENST00000551295	ENSG00000018236	41086244	41466220	ENSP00000447006	CNTN1	1	CNTN1_HUMAN	c.54T>C	p.C18C	syn	rs149203149	-	C=3/T=8597;C=0/T=4404;C=3/T=13001	lod=44:374	-	-	-	het	4
18	12	41302288	T	C	ENST00000551424	ENSG00000018236	41086244	41466220	ENSP00000450412	CNTN1	1	-	c.54T>C	p.C18C	syn	rs149203149	-	C=3/T=8597;C=0/T=4404;C=3/T=13001	lod=44:374	-	-	-	het	4
19	12	41302288	T	C	ENST00000552248	ENSG00000018236	41086244	41466220	ENSP00000447860	CNTN1	1	-	c.54T>C	p.C18C	syn	rs149203149	-	C=3/T=8597;C=0/T=4404;C=3/T=13001	lod=44:374	-	-	-	het	4
20	12	41302288	T	C	ENST00000552913	ENSG00000018236	41086244	41466220	ENSP00000449706	CNTN1	1	-	c.54T>C	p.C18C	syn	rs149203149	-	C=3/T=8597;C=0/T=4404;C=3/T=13001	lod=44:374	-	-	-	het	4

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Transcripts and variants in the surrounding CNTN1 12:41086244..41466220 region Gbrowse